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Advances in Genetics of Human Reproduction
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Advances in Genetics of Human Reproduction

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 April 2025 | Viewed by 2845

Special Issue Editors

Prof. Dr. Jasenka Wagner

E-Mail Website
Guest Editor
Department of Medical Biology and Genetics, Faculty of Medicine, Josip Juraj Strossmayer University, Osijek, Croatia
Interests: reproductive genetics; non-invasive prenatal diagnostics; pregnancy complications
Prof. Dr. Borut Peterlin

E-Mail Website
Guest Editor
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, SI-1000 Ljubljana, Slovenia
Interests: public health genomics; genomic medicine in health systems; mechanisms of human genetic and complex disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to invite you to submit a manuscript to the Special Issue ‘Advances in Genetics of Human Reproduction’.

Since the completion of the Human Genome Project and the development of high-throughput sequencing techniques, the field of human genetics has undergone significant advancements. On the other hand, during the last 70 years, fertility rates have decreased worldwide by 50% and infertility has become a frequently diagnosed medical condition affecting over 15% of couples worldwide. It has been estimated that approximately 50% of the causes of infertility are related to genetic factors. The main known genetic causes of infertility include chromosomal aberrations, monogenic diseases, and phenotypes with multifactorial inheritance. The physiology of reproduction involves several paracrine, autocrine, and endocrine processes. They are regulated by a number of genes and any discrepancy in these processes can lead to infertility. As a result, various genetic tests have become essential in determining the genetic causes of infertility. Apart from the accurate aetiological diagnosis, genetic testing is applied for the purpose of prenatal and preimplantation genetic screening and diagnosis in order to improve success rates and reduce risks involved in assisted reproduction. Additionally, during the last two decades, we have become aware of the role of various gene–environmental interactions in infertility as well as age-associated epigenetic changes in infertility and reproductive aging.

The aim of this Special Issue is to collect clinical and basic research studies reporting novel insights in the genetics of human reproduction. Original scientific research articles or comprehensive reviews are welcomed, explaining biological mechanisms of human reproduction, such as the roles of different genes and hormones. Articles reporting novel technologies or therapeutic options in the field are welcomed as well.

We look forward to receiving your contribution.

Prof. Dr. Jasenka Wagner
Prof. Dr. Borut Peterlin
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic
  • human reproduction
  • infertility
  • medically assisted reproduction
  • pregnancy complications
  • recurrent miscarriage

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Published Papers (4 papers)

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Research

19 pages, 5951 KiB  
Article
Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve
by Anne Helbling-Leclerc, Marie Falampin, Abdelkader Heddar, Léa Guerrini-Rousseau, Maud Marchand, Iphigenie Cavadias, Nathalie Auger, Brigitte Bressac-de Paillerets, Laurence Brugieres, Bernard S. Lopez, Michel Polak, Filippo Rosselli and Micheline Misrahi
Int. J. Mol. Sci. 2024, 25(22), 12460; https://doi.org/10.3390/ijms252212460 - 20 Nov 2024
Viewed by 501
Abstract
The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic heterogeneity. In contrast, the causes of diminished ovarian reserve (DOR) remain poorly understood. Here, we identified by NGS and whole exome [...] Read more.
The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic heterogeneity. In contrast, the causes of diminished ovarian reserve (DOR) remain poorly understood. Here, we identified by NGS and whole exome sequencing (WES) the cause of isolated DOR in a 14-year-old patient. Two frameshift mutations in BRCA1 (NM_007294.4) were found: in exon 8 (c.470_471del; p.Ser157Ter) and in exon 11 (c.791_794del, p.Ser264MetfsTer33). Unexpectedly, the patient presented no signs of Fanconi anemia (FA), i.e., no developmental abnormalities or indications of bone marrow failure. However, high chromosomal fragility was found in the patient’s cells, consistent with an FA diagnosis. RT-PCR and Western-blot analysis support the fact that the c. 791_794del BRCA1 allele is transcribed and translated into a shorter protein (del11q), while no expression of the full-length BRCA1 protein was found. DNA damage response (DDR) studies after genotoxic agents demonstrate normal activation of the early stages of the DDR and FANC/BRCA pathway. This is consistent with the maintenance of residual repair activity for the del11q BRCA1 isoform. Our observation is the first implication of bi-allelic BRCA1 mutations in isolated ovarian dysfunction or infertility in humans, without clinical signs of FA, and highlights the importance of BRCA1 in ovarian development and function. Full article
(This article belongs to the Special Issue Advances in Genetics of Human Reproduction)
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19 pages, 2304 KiB  
Article
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility
by Imène Lafraoui, Abdelkader Heddar, Adèle Cantalloube, Inès Braham, Maëliss Peigné, Claire Beneteau, Solenne Gricourt, Claire Poirsier, Stéphanie Legrand, Radka Stoeva, Laure Metayer-Amelot, Annina Lobersztajn, Soizic Lebrun, Nicolas Gruchy, Inès Abdennebi, Isabelle Cedrin-Durnerin, Hervé Fernandez, Dominique Luton, Antoine Torre, Léonore Zagdoun, Nicolas Chevalier, Mohamed Khrouf, Khaled Mahmoud, Sylvie Epelboin, Sophie Catteau-Jonard and Micheline Misrahiadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2024, 25(22), 11915; https://doi.org/10.3390/ijms252211915 - 6 Nov 2024
Viewed by 722
Abstract
Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) are major causes of female infertility. We recently found a monogenic etiology in 29.3% of POI, leading to personalized medicine. The genetic landscape of DOR is unknown. A prospective study (2018–2023) of an international [...] Read more.
Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) are major causes of female infertility. We recently found a monogenic etiology in 29.3% of POI, leading to personalized medicine. The genetic landscape of DOR is unknown. A prospective study (2018–2023) of an international cohort of 120 patients with unexplained DOR was performed using a large custom targeted next-generation sequencing panel including all known POI-causing genes. The diagnostic yield, based on the American College of Medical Genetics, was 24, 2%. Genes belong to different pathways: metabolism and mitochondria (29.7%), follicular growth (24.3%), DNA repair/meiosis (18.9%), aging (16.2%), ovarian development (8.1%), and autophagy (2.7%). Five genes were recurrently found: LMNA, ERCC6, SOX8, POLG, and BMPR1B. Six genes identified in single families with POI were involved in DOR, GNAS, TGFBR3, XPNPEP2, EXO1, BNC1, ATG, highlighting their role in maintaining ovarian reserve. In our cohort, 26 pregnancies were recorded, but no pregnancy was observed when meiosis/DNA repair genes were involved, suggesting severely impaired oocyte quality. Additional studies should confirm these preliminary results. This study with a large NGS panel defines the genetic landscape of a large cohort of DOR. It supports routine genetic diagnosis. Genetics could be a biomarker predicting infertility and progression to POI. Full article
(This article belongs to the Special Issue Advances in Genetics of Human Reproduction)
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11 pages, 257 KiB  
Communication
Association of 25(OH)-Vitamin D3 Serum Concentrations and Vitamin D Receptor Gene Variants with the Risk of Idiopathic Spontaneous Preterm Birth in the Croatian Population
by Milena Gašparović Krpina, Sanja Dević Pavlić, Tea Mladenić, Merica Aralica, Anita Barišić, Alemka Brnčić-Fischer, Saša Ostojić and Nina Pereza
Int. J. Mol. Sci. 2024, 25(21), 11712; https://doi.org/10.3390/ijms252111712 - 31 Oct 2024
Viewed by 444
Abstract
Preterm birth (PTB) forms a heterogeneous group with possible genetic predisposition. 25(OH)-vitamin D3 plays a significant role during implantation, placentation, and the maintenance of normal pregnancy. The aim of our research was to examine whether FokI, Cdx2, and ApaI VDR gene variants, as [...] Read more.
Preterm birth (PTB) forms a heterogeneous group with possible genetic predisposition. 25(OH)-vitamin D3 plays a significant role during implantation, placentation, and the maintenance of normal pregnancy. The aim of our research was to examine whether FokI, Cdx2, and ApaI VDR gene variants, as well as serum concentrations of 25-hydroxy25(OH)-vitamin D3 in women and their newborns, might be predisposing factors for idiopathic spontaneous preterm birth. The patient group consisted of 44 pairs of women with ISPTB and their children, and the control group consisted of 44 pairs of women who delivered at term and their children. At the time of delivery, peripheral blood was collected from every woman, and after newborn delivery, umbilical cord blood was collected. For genotyping of the rs2228570 C/T, rs11568820 G/A, and rs7975232 T/G SNPs, a combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was used. Serum concentrations of 25(OH)-vitamin D3 were determined using high-performance liquid chromatography (HPLC). There were no statistically significant differences in the frequencies of VDR genotypes and alleles between women with ISPTB and control women. There was a statistically significant difference in the distribution of VDR Cdx-2 (rs11568820) genotypes between preterm-born children and controls, with the GG genotype and G allele being more prevalent among patients than controls (p < 0.001). There were no statistically significant differences in mean values between women with ISPTB and control women, nor between preterm and full-term newborns, although the 25(OH)-vitamin D3 concentrations in preterm-born children were lower than in controls. Furthermore, there was a statistically significant correlation in 25(OH)-vitamin D3 concentrations between mothers and children both in the patient and in the control groups (b = 0.771, p < 0.001). The results of our study demonstrate a notable association between the VDR Cdx2 gene polymorphism and idiopathic spontaneous preterm birth (ISPTB) in a Caucasian population, but because of the small number of participants, further research is needed. Full article
(This article belongs to the Special Issue Advances in Genetics of Human Reproduction)
12 pages, 258 KiB  
Article
Protective Effect of EBF Transcription Factor 1 (EBF1) Polymorphism in Sporadic and Familial Spontaneous Preterm Birth: Insights from a Case-Control Study
by Tea Mladenić, Jasenka Wagner, Mirta Kadivnik, Nina Pereza, Saša Ostojić, Borut Peterlin and Sanja Dević Pavlić
Int. J. Mol. Sci. 2024, 25(20), 11192; https://doi.org/10.3390/ijms252011192 - 17 Oct 2024
Viewed by 606
Abstract
This study investigated the potential role of specific single-nucleotide polymorphisms (SNPs) in the genes Astrotactin 1 (ASTN1), EBF Transcription Factor 1 (EBF1), Eukaryotic Elongation Factor, Selenocysteine-tRNA Specific (EEFSEC), Microtubule-Associated Serine/Threonine Kinase 1 (MAST1), and [...] Read more.
This study investigated the potential role of specific single-nucleotide polymorphisms (SNPs) in the genes Astrotactin 1 (ASTN1), EBF Transcription Factor 1 (EBF1), Eukaryotic Elongation Factor, Selenocysteine-tRNA Specific (EEFSEC), Microtubule-Associated Serine/Threonine Kinase 1 (MAST1), and Tumor Necrosis Factor Alpha (TNF-α) to assess whether these genetic variants contribute to the risk of spontaneous preterm birth (sPTB). A case-control study was conducted involving 573 women from Croatia and Slovenia: 248 with sporadic sPTB (positive personal and negative family history of sPTB before 37 weeks’ gestation), 44 with familial sPTB (positive personal and family history of sPTB before 37 weeks’ gestation), and 281 control women. The analysis of ASTN1 rs146756455, EBF1 rs2963463, EBF1 rs2946169, EEFSEC rs201450565, MAST1 rs188343966, and TNF-α rs1800629 SNPs was performed using TaqMan real-time PCR. p-values were Bonferroni-adjusted for multiple comparisons. EBF1 SNP rs2963463 was significantly associated with sPTB (p adj = 0.03). Women carrying the CC genotype had a 3–4-times lower risk of sPTB (p adj < 0.0001). In addition, a significant difference in the frequency of the minor C allele was observed when comparing familial sPTB cases with controls (p adj < 0.0001). All other associations were based on unadjusted p-values. The minor T allele of EBF1 SNP rs2946169 was more frequent in sPTB cases overall than in controls, especially in sporadic sPTB (p = 0.045). Similarly, the CC genotype of ASTN1 SNP rs146756455 was more frequent in sporadic sPTB cases compared to controls (p = 0.019). Finally, the TNF-α SNP rs1800629 minor A allele and AA genotype were more common in the familial sPTB group compared to sporadic sPTB and controls (p < 0.05). The EBF1 SNP rs2963463 polymorphism showed a protective effect in the pathogenesis of sPTB, particularly in women carrying the CC genotype. Moreover, EBF1 SNP rs2946169 and ASTN1 SNP rs146756455, as well as TNF-α SNP rs1800629, were associated with an increased risk of sPTB, representing suggestive potential risk factors for sporadic and familial sPTB, respectively. Full article
(This article belongs to the Special Issue Advances in Genetics of Human Reproduction)
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